Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Agnes Ginges Centre for Molecular Cardiology, |
RCV001089629 | SCV001245106 | pathogenic | Holt-Oram syndrome; Left ventricular noncompaction cardiomyopathy | 2018-02-09 | criteria provided, single submitter | research | TBX5 Ser36Thrfs*25 has not been previously reported and is absent in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We identified this variant in a patient with Holt-Oram Syndrome, the patient initially presented with findings of left ventricular non-compaction and also has brachydactyly and pectus deformity associated to the condition (Ross et al., 2018). TBX5 variants have only ever been associated to Holt-Oram syndrome furthermore, TBX5 loss of function variants are an established mechanism of disease and the variant is very rare in the general population, consequently we classify TBX5 Ser36Thrfs*25 as 'pathogenic'. |